Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000251.3

p.N536D

c.1606A>G

Surrounding Variants

1 paper

NM_000251.3

p.N536_K537insC

c.1606_1610ins3

1 paper

NM_000251.3

p.N536fs

c.1606_1607fs

1 paper

NM_000251.3

p.N536insFs

c.1608dupT

3 papers

NM_000251.3

p.N536S

c.1607A>G

1 paper

NM_000251.3

p.N536I

c.1607A>T

1 paper

NM_000251.3

p.N535K

c.1605C>A

1 paper

NM_000251.3

p.N535K

c.1605C>G

2 papers

NM_000251.3

p.N538insFs

c.1613_1614insA

3 papers

NM_000251.3

p.N538delFs

c.1613delA

2 papers

NM_000251.3

p.K537_N538delFs

c.1610_1613del4

1 paper

NM_000251.3

p.K537fs

c.1609_1610fs

8 papers

NM_000251.3

p.K537*

c.1609A>T